Variant report

Variant	rs1971431
Chromosome Location	chr5:147832056-147832057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10035818	1.00[CEU][hapmap]
rs10041283	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10042369	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10043775	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10044061	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10051223	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10055430	0.95[CEU][hapmap]
rs10056586	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10060623	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10060753	0.82[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]
rs10068216	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10072051	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10072958	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10077690	0.85[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10079420	0.84[EUR][1000 genomes]
rs10477376	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168046	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs11168047	0.84[EUR][1000 genomes]
rs1128450	0.86[EUR][1000 genomes]
rs12513547	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12521065	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs12717973	0.85[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12717974	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13174567	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13354454	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1345741	0.82[CEU][hapmap]
rs17108251	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17720155	1.00[CEU][hapmap]
rs17776882	0.95[CEU][hapmap]
rs17777066	0.86[EUR][1000 genomes]
rs1984789	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs2037997	0.82[EUR][1000 genomes]
rs2112761	0.95[CEU][hapmap]
rs28617172	0.87[EUR][1000 genomes]
rs34269182	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34685718	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36028618	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3734120	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734121	0.88[EUR][1000 genomes]
rs3925019	0.95[CEU][hapmap]
rs4274967	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274968	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349707	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4472255	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574533	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4574534	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599524	0.95[CEU][hapmap]
rs4599526	0.95[CEU][hapmap]
rs4639212	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4639213	0.95[CEU][hapmap]
rs4705247	0.82[CEU][hapmap]
rs4705248	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs4705253	0.95[CEU][hapmap]
rs60625004	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6861078	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs6876982	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6884076	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700502	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713927	0.88[EUR][1000 genomes]
rs7727161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7727320	0.88[EUR][1000 genomes]
rs7728004	0.95[CEU][hapmap]
rs7733401	0.88[EUR][1000 genomes]
rs7736019	1.00[CEU][hapmap]
rs9325095	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9325096	0.95[CEU][hapmap]
rs9325097	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9325098	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147797000-147832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:147807600-147833600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:147807600-147833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:147807600-147834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:147808000-147835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:147815600-147832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:147817000-147834200	Weak transcription	Gastric	stomach
8	chr5:147822400-147833600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:147822400-147834000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:147822400-147839200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:147823000-147834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:147823200-147833600	Weak transcription	Brain Germinal Matrix	brain
13	chr5:147823400-147832200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:147823400-147834600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:147824200-147835000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:147826600-147834200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:147826800-147832600	Weak transcription	Right Atrium	heart
18	chr5:147826800-147833400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:147826800-147834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:147828600-147832400	Weak transcription	Left Ventricle	heart
21	chr5:147831800-147837000	Enhancers	Fetal Heart	heart
22	chr5:147832000-147832200	Enhancers	Right Ventricle	heart

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